A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv580n223



Internal ID22803548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246101000..246457377hg38UCSC Ensembl
chr1:246264302..246620679hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38356378
hg19356378
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6332874, nsv6317069
Samples
Known GenesSMYD3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv580n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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